If you've been through genetic testing
REOM
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Would you say that it was particularly difficult on your child? What about the anxiety/waiting for you?
My DD has a clinical diagnosis for a neurological genetic disorder due to presenting criteria. This is good enough for my DH, and he doesn't want to go forward with the genetic testing. I think this is part b/c the disorder was inherited from him and he feels guilty. He didn't get his diagnosis until our daughter started having issues, so it was never problematic for him.
There is a chance of false negatives, so our neurological team would treat her as positive regardless of the results.
I want to do the testing just for peace of mind. I think it would be easier to explain to my child that she has this disorder as she grows, rather than waiting until she is older for another criteria to show up.
Anyway, would you go through genetic testing just to satisfy your own curiosity?
Re: If you've been through genetic testing
Yup.
DH knew he had it from clinical symptoms and removal of a tumor.
DS and DD were both tested in utero (CVS) and then verified as a baby (simple blood draw).
The different genetic results can impact their projected results (to a small degree and only for the more severe kids is my understanding) and I just went to a big NF conference where I don't remember the details but they mentioned a few different specific types that are associated with certain problems. So I would want to know.
My kids have no clue they have NF, so no anxiety for them. The blood draws are always at the childrens hosp where we see our geneticist, so they have "child life specialists" or some such that come in and blow bubbles and other stuff to distract the kids. DS and DD have both done fine.
My anxiety wasn't too bad. I guess I just knew they had it and it was out of my control, so whatever. But I am not one to worry obsessively about this stuff so it may be different for you.
ETA: I am not trying to imply that you are obsessive
just saying that stuff doesn't bother me personally. Probably helps that my H has a PhD, successful life (he got me after all, lol) and very few problems relating to his NF.
It is a simple blood draw for them and about 4-6 weeks of waiting for you. I would want to know just in case the genetic issue has any other medical stuff to look out for.
For example, we would not have known to check Nate's kidneys or spinal cord without the genetic information. Both areas are fine, but if he had issues or pain I think it would have taken longer to figure out what was going on and that would have been unneccessary pain for Nate.
My H hasn't had any problems with it either. In fact, he didn't even realize that he had it until my DD started having issues! I don't know how all the drs in his life missed it, considering his torso is covered with CALs.
He just doesn't want to do any more tests that we don't have to, which I understand. Really, there is no doubt that she has is, that is why he doesn't see the value in the testing.
Thanks for your responses!
We go to St. Joseph's in Paterson. They have an NF clinic there.
We are doing it also. We don't think my son has any genetic issues we just want to be sure that all the little things that are issues for him are not all the bases for something else that we might find with the testing.
I am sure I am going to worry I am sure till we get results but we are doing it cause we plan to have another baby and want to be sure there is nothing there.
I would do it in your case just to make curiosity go away. Better to know then always wonder.
We're having it done next month - we don't think DS has any genetic disorders but we want to make sure there's not something we're missing (he's been diagnosed with hearing loss). Also, we'll want to know if it's something we should know about for our future children (if he has a hearing loss gene or something).
I believe it's just a simple blood draw, so your LO should be fine. DH and I are probably going to be nervous, though, until we get the results. I'd rather have an answer though, then be left wondering.
We had genetic testing for DD, DH, and myself. It is a simple blood draw.
Here are my two cents...why would you NOT want to know? Is an ostrich really hiding when he sticks his head in the sand? Knowledge is power and it can be very helpful. You can educate yourself, get early intervention, etc. Knowing allows you to be proactive instead of always reactive.
I will be honest. It must be very hard for your husband. I am sure he feels a tremendous amount of guilt (although I know you don't "blame" him, I am sure he blames himself). I was more nervous waiting on DH's and my results for that very reason. Be gentle with him, but get the testing done.